Canonical Allele Identifier: CA915950121

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 824110
• ClinVar RCV Id: RCV001020952
• dbSNP Id: rs1597861891

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091819_43091820del , CM000679.2:g.43091819_43091820del	GRCh38
NC_000017.10:g.41243836_41243837del , CM000679.1:g.41243836_41243837del	GRCh37
NC_000017.9:g.38497362_38497363del	NCBI36
NG_005905.2:g.126164_126165del , LRG_292:g.126164_126165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3775_3776del
ENST00000461574.2:c.3711_3712del	ENSP00000417241.2:p.Pro1238PhefsTer5
ENST00000470026.6:c.3711_3712del	ENSP00000419274.2:p.Pro1238PhefsTer5
ENST00000473961.6:c.3585_3586del	ENSP00000420201.2:p.Pro1196PhefsTer5
ENST00000476777.6:c.3708_3709del	ENSP00000417554.2:p.Pro1237PhefsTer5
ENST00000477152.6:c.3633_3634del	ENSP00000419988.2:p.Pro1212PhefsTer5
ENST00000478531.6:c.785-788_785-787del	ENSP00000420412.2:n.785-788_785-787del
ENST00000489037.2:c.3633_3634del	ENSP00000420781.2:p.Pro1212PhefsTer5
ENST00000493919.6:c.647-788_647-787del	ENSP00000418819.2:n.647-788_647-787del
ENST00000494123.6:c.3711_3712del	ENSP00000419103.2:p.Pro1238PhefsTer5
ENST00000497488.2:c.2823_2824del	ENSP00000418986.2:p.Pro942PhefsTer5
ENST00000618469.2:c.3711_3712del	ENSP00000478114.2:p.Pro1238PhefsTer5
ENST00000634433.2:c.3588_3589del	ENSP00000489431.2:p.Pro1197PhefsTer5
ENST00000644379.2:c.3711_3712del	ENSP00000496570.2:p.Pro1238PhefsTer5
ENST00000644555.2:c.647-788_647-787del	ENSP00000494614.2:n.647-788_647-787del
ENST00000652672.2:c.3570_3571del	ENSP00000498906.2:p.Pro1191PhefsTer5
ENST00000484087.6:c.665-788_665-787del	ENSP00000419481.2:n.665-788_665-787del
ENST00000700182.1:c.707-788_707-787del	ENSP00000514849.1:n.707-788_707-787del
ENST00000357654.9:c.3711_3712del MANE Select	ENSP00000350283.3:p.Pro1238PhefsTer5
ENST00000471181.7:c.3711_3712del	ENSP00000418960.2:p.Pro1238PhefsTer5
ENST00000644379.1:c.32_33del
ENST00000352993.7:c.671-788_671-787del	ENSP00000312236.5:n.671-788_671-787del
ENST00000354071.7:c.3711_3712del	ENSP00000326002.7:p.Pro1238PhefsTer5
ENST00000357654.7:c.3711_3712del	ENSP00000350283.3:p.Pro1238PhefsTer5
ENST00000461221.5:c.*3494_*3495del	ENSP00000418548.1:n.*3494_*3495del
ENST00000461574.1:c.5_6del
ENST00000468300.5:c.788-788_788-787del	ENSP00000417148.1:n.788-788_788-787del
ENST00000471181.6:c.3711_3712del	ENSP00000418960.2:p.Pro1238PhefsTer5
ENST00000478531.5:c.785-788_785-787del	ENSP00000420412.1:n.785-788_785-787del
ENST00000484087.5:c.410-788_410-787del	ENSP00000419481.1:n.410-788_410-787del
ENST00000487825.5:c.413-788_413-787del	ENSP00000418212.1:n.413-788_413-787del
ENST00000491747.6:c.788-788_788-787del	ENSP00000420705.2:n.788-788_788-787del
ENST00000493795.5:c.3570_3571del	ENSP00000418775.1:p.Pro1191PhefsTer5
ENST00000493919.5:c.647-788_647-787del	ENSP00000418819.1:n.647-788_647-787del
ENST00000586385.5:c.5-27869_5-27868del	ENSP00000465818.1:n.5-27869_5-27868del
ENST00000591534.5:c.-43-17299_-43-17298del	ENSP00000467329.1:n.-43-17299_-43-17298del
ENST00000591849.5:c.-99+33451_-99+33452del	ENSP00000465347.1:n.-99+33451_-99+33452del
NM_007294.3:c.3711_3712del , LRG_292t1:c.3711_3712del	NP_009225.1:p.Pro1238PhefsTer5
NM_007297.3:c.3570_3571del	NP_009228.2:p.Pro1191PhefsTer5
NM_007298.3:c.788-788_788-787del	NP_009229.2:n.788-788_788-787del
NM_007299.3:c.788-788_788-787del	NP_009230.2:n.788-788_788-787del
NM_007300.3:c.3711_3712del	NP_009231.2:p.Pro1238PhefsTer5
NR_027676.1:n.3847_3848del
NM_007294.4:c.3711_3712del MANE Select	NP_009225.1:p.Pro1238PhefsTer5
NM_007297.4:c.3570_3571del	NP_009228.2:p.Pro1191PhefsTer5
NM_007299.4:c.788-788_788-787del	NP_009230.2:n.788-788_788-787del
NM_007300.4:c.3711_3712del	NP_009231.2:p.Pro1238PhefsTer5
NR_027676.2:n.3888_3889del